AUTS2 and Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability: Association Evidence

Gene-Disorder Association · Article

Gene

AUTS2

Activator Of Transcription And Developmental Regulator AUTS2

Disorder

Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability

First reported 1975

Supporting publications 1

Key publication · disorder Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).Zeitschrift fur Kinderheilkunde · 1975

Association Review

In brief

The association between AUTS2 (Activator Of Transcription And Developmental Regulator AUTS2) and Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 1